Canonical Allele Identifier: CA4242524
Gene: NPC1L1 HGNC NCBI
COSMIC:
COSM4600130
dbSNP:
119457968
gnomAD v2:
7:44579833 C / G
gnomAD v3:
7:44540234 C / G
gnomAD v4:
chr7-44540234-C-G
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00001174 (NFE)
MyVariant.info:
GRCh38 chr7:g.44540234C>G
GRCh37 chr7:g.44579833C>G
Revel Score:
ENST00000289547 0.350
ENST00000381160 (MANE Select) 0.350
ENST00000546276 0.350
ENST00000423141 0.350
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44540234C>G , CM000669.2:g.44540234C>G GRCh38
NC_000007.13:g.44579833C>G , CM000669.1:g.44579833C>G GRCh37
NC_000007.12:g.44546358C>G NCBI36
NG_013088.1:g.6082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.163G>C MANE Select ENSP00000370552.3:p.Val55Leu
ENST00000289547.8:c.163G>C ENSP00000289547.4:p.Val55Leu
ENST00000381160.7:c.163G>C ENSP00000370552.3:p.Val55Leu
ENST00000423141.1:c.163G>C ENSP00000404670.1:p.Val55Leu
ENST00000546276.5:c.163G>C ENSP00000438033.1:p.Val55Leu
NM_001101648.1:c.163G>C NP_001095118.1:p.Val55Leu
NM_001300967.1:c.163G>C NP_001287896.1:p.Val55Leu
NM_013389.2:c.163G>C NP_037521.2:p.Val55Leu
XM_011515326.1:c.163G>C XP_011513628.1:p.Val55Leu
XM_011515327.1:c.163G>C XP_011513629.1:p.Val55Leu
XM_011515326.3:c.163G>C XP_011513628.1:p.Val55Leu
XM_011515328.2:c.-1205G>C XP_011513630.1:n.-1205G>C
XR_002956423.1:n.555G>C
NM_001101648.2:c.163G>C MANE Select NP_001095118.1:p.Val55Leu
NM_001300967.2:c.163G>C NP_001287896.1:p.Val55Leu
NM_013389.3:c.163G>C NP_037521.2:p.Val55Leu
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